The Experts below are selected from a list of 33294 Experts worldwide ranked by ideXlab platform
Rabea Wagener - One of the best experts on this subject based on the ideXlab platform.
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genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt Lymphoma
Nature Communications, 2019Co-Authors: Sietse M Aukema, Rabea Wagener, Stephan H Bernhart, Cristina Lopez, Kortine Kleinheinz, Marius Rohde, Daniel HubschmannAbstract:Burkitt Lymphoma (BL) is the most common B-cell Lymphoma in children. Within the International Cancer Genome Consortium (ICGC), we performed whole genome and transcriptome sequencing of 39 sporadic BL. Here, we unravel interaction of structural, mutational, and transcriptional changes, which contribute to MYC oncogene dysregulation together with the pathognomonic IG-MYC translocation. Moreover, by mapping IGH translocation breakpoints, we provide evidence that the precursor of at least a subset of BL is a B-cell poised to express IGHA. We describe the landscape of mutations, structural variants, and mutational processes, and identified a series of driver genes in the pathogenesis of BL, which can be targeted by various mechanisms, including IG-non MYC translocations, germline and somatic mutations, fusion transcripts, and alternative splicing.
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recurrent mutation of the id3 gene in Burkitt Lymphoma identified by integrated genome exome and transcriptome sequencing
Nature Genetics, 2012Co-Authors: Julia Richter, Markus Kreuz, Maciej Rosolowski, Matthias Schlesner, Steve Hoffmann, Ellen Leich, Birgit Burkhardt, Ole Ammerpohl, Rabea Wagener, Stephan H BernhartAbstract:Burkitt Lymphoma is a mature aggressive B-cell Lymphoma derived from germinal center B cells(1). Its cytogenetic hallmark is the Burkitt translocation t(8;14)(q24;q32) and its variants, which juxtapose the MYC oncogene with one of the three immunoglobulin loci(2). Consequently, MYC is deregulated, resulting in massive perturbation of gene expression(3). Nevertheless, MYC deregulation alone seems not to be sufficient to drive Burkitt Lymphomagenesis. By whole-genome, whole-exome and transcriptome sequencing of four prototypical Burkitt Lymphomas with immunoglobulin gene (IG)-MYC translocation, we identified seven recurrently mutated genes. One of these genes, ID3, mapped to a region of focal homozygous loss in Burkitt Lymphoma(4). In an extended cohort, 36 of 53 molecularly defined Burkitt Lymphomas (68%) carried potentially damaging mutations of ID3. These were strongly enriched at somatic hypermutation motifs. Only 6 of 47 other B-cell Lymphomas with the IG-MYC translocation (13%) carried ID3 mutations. These findings suggest that cooperation between ID3 inactivation and IG-MYC translocation is a hallmark of Burkitt Lymphomagenesis.
Masatoshi Hagiwara - One of the best experts on this subject based on the ideXlab platform.
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williams beuren syndrome as a potential risk factor for Burkitt Lymphoma
Frontiers in Genetics, 2018Co-Authors: Ryo Kimura, Yuko Ishii, Kiyotaka Tomiwa, Tomonari Awaya, Masatoshi Nakata, Takeo Kato, Shin Okazaki, Toshio Heike, Masatoshi HagiwaraAbstract:Williams-Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood cancer in children with WBS. We describe a case of Burkitt Lymphoma in a 21-year-old man with WBS. In addition to providing a summary of published reports describing tumors observed in patients with WBS, we present a hypothesis about a possible mechanism of oncogenesis. In particular, we identified some significantly dysregulated cancer-related genes using blood samples from this patient at the age of 19 years (who have not yet developed Burkitt Lymphoma). Our findings may provide a new perspective on the relation between WBS and Burkitt Lymphoma.
Ryo Kimura - One of the best experts on this subject based on the ideXlab platform.
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williams beuren syndrome as a potential risk factor for Burkitt Lymphoma
Frontiers in Genetics, 2018Co-Authors: Ryo Kimura, Yuko Ishii, Kiyotaka Tomiwa, Tomonari Awaya, Masatoshi Nakata, Takeo Kato, Shin Okazaki, Toshio Heike, Masatoshi HagiwaraAbstract:Williams-Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood cancer in children with WBS. We describe a case of Burkitt Lymphoma in a 21-year-old man with WBS. In addition to providing a summary of published reports describing tumors observed in patients with WBS, we present a hypothesis about a possible mechanism of oncogenesis. In particular, we identified some significantly dysregulated cancer-related genes using blood samples from this patient at the age of 19 years (who have not yet developed Burkitt Lymphoma). Our findings may provide a new perspective on the relation between WBS and Burkitt Lymphoma.
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Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma
Frontiers Media S.A., 2018Co-Authors: Ryo Kimura, Yuko Ishii, Kiyotaka Tomiwa, Tomonari Awaya, Masatoshi Nakata, Takeo Kato, Shin OkazakiAbstract:Williams–Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood cancer in children with WBS. We describe a case of Burkitt Lymphoma in a 21-year-old man with WBS. In addition to providing a summary of published reports describing tumors observed in patients with WBS, we present a hypothesis about a possible mechanism of oncogenesis. In particular, we identified some significantly dysregulated cancer-related genes using blood samples from this patient at the age of 19 years (who have not yet developed Burkitt Lymphoma). Our findings may provide a new perspective on the relation between WBS and Burkitt Lymphoma
Kiyotaka Tomiwa - One of the best experts on this subject based on the ideXlab platform.
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williams beuren syndrome as a potential risk factor for Burkitt Lymphoma
Frontiers in Genetics, 2018Co-Authors: Ryo Kimura, Yuko Ishii, Kiyotaka Tomiwa, Tomonari Awaya, Masatoshi Nakata, Takeo Kato, Shin Okazaki, Toshio Heike, Masatoshi HagiwaraAbstract:Williams-Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood cancer in children with WBS. We describe a case of Burkitt Lymphoma in a 21-year-old man with WBS. In addition to providing a summary of published reports describing tumors observed in patients with WBS, we present a hypothesis about a possible mechanism of oncogenesis. In particular, we identified some significantly dysregulated cancer-related genes using blood samples from this patient at the age of 19 years (who have not yet developed Burkitt Lymphoma). Our findings may provide a new perspective on the relation between WBS and Burkitt Lymphoma.
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Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma
Frontiers Media S.A., 2018Co-Authors: Ryo Kimura, Yuko Ishii, Kiyotaka Tomiwa, Tomonari Awaya, Masatoshi Nakata, Takeo Kato, Shin OkazakiAbstract:Williams–Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood cancer in children with WBS. We describe a case of Burkitt Lymphoma in a 21-year-old man with WBS. In addition to providing a summary of published reports describing tumors observed in patients with WBS, we present a hypothesis about a possible mechanism of oncogenesis. In particular, we identified some significantly dysregulated cancer-related genes using blood samples from this patient at the age of 19 years (who have not yet developed Burkitt Lymphoma). Our findings may provide a new perspective on the relation between WBS and Burkitt Lymphoma
Shin Okazaki - One of the best experts on this subject based on the ideXlab platform.
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williams beuren syndrome as a potential risk factor for Burkitt Lymphoma
Frontiers in Genetics, 2018Co-Authors: Ryo Kimura, Yuko Ishii, Kiyotaka Tomiwa, Tomonari Awaya, Masatoshi Nakata, Takeo Kato, Shin Okazaki, Toshio Heike, Masatoshi HagiwaraAbstract:Williams-Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood cancer in children with WBS. We describe a case of Burkitt Lymphoma in a 21-year-old man with WBS. In addition to providing a summary of published reports describing tumors observed in patients with WBS, we present a hypothesis about a possible mechanism of oncogenesis. In particular, we identified some significantly dysregulated cancer-related genes using blood samples from this patient at the age of 19 years (who have not yet developed Burkitt Lymphoma). Our findings may provide a new perspective on the relation between WBS and Burkitt Lymphoma.
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Williams–Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma
Frontiers Media S.A., 2018Co-Authors: Ryo Kimura, Yuko Ishii, Kiyotaka Tomiwa, Tomonari Awaya, Masatoshi Nakata, Takeo Kato, Shin OkazakiAbstract:Williams–Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood cancer in children with WBS. We describe a case of Burkitt Lymphoma in a 21-year-old man with WBS. In addition to providing a summary of published reports describing tumors observed in patients with WBS, we present a hypothesis about a possible mechanism of oncogenesis. In particular, we identified some significantly dysregulated cancer-related genes using blood samples from this patient at the age of 19 years (who have not yet developed Burkitt Lymphoma). Our findings may provide a new perspective on the relation between WBS and Burkitt Lymphoma
